Recombinant Human Alx1 protein (ab159945)

Transcriptional activator that acts at a palindromic recognition sequence to enhance the activity of the SV40 and TK promoters. Functions as a repressor with the prolactin promoter in vivo. May play a role in chondrocyte differentiation and may also influence cervix development.

Cartilage and cervix tissue.

Defects in ALX1 are the cause of frontonasal dysplasia type 3 (FND3) [MIM:613456]. The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline.

Belongs to the paired homeobox family.
Contains 1 homeobox DNA-binding domain.

Acetylated at Lys-131 by EP300, leading to increased interaction with EP300 and enhances transcriptional activation activity.

Nucleus.